Spinocerebellar ataxia type 6 in Brazil.
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.
Teive
Hélio A G
HA
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
Munhoz
Renato Puppi
RP
Raskin
Salmo
S
Werneck
Lineu César
LC
D000368:Aged; D044466:Asian People; D001938:Brazil; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type